Understanding the cause of falls and imbalance in DM1
Research type
Research Study
Full title
Understanding the cause of falls and imbalance in myotonic dystrophy type 1
IRAS ID
313440
Contact name
Diego Kaski
Contact email
Sponsor organisation
University College London (UCL)
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Myotonic Dystrophy type 1 (DM1) is the most common adult muscular dystrophy affecting approximately 8,000 people in the UK and is a progressive, multi-system autosomal dominant disorder for which there is no disease modifying treatment. Individuals with DM1 live 53 years on average and usually experience several decades of decreasing functional impairment and independence prior to death.
A major issue in DM1 is imbalance with associated high risk of falls, leading to substantial morbidity and premature death. Despite this common problem, an understanding of the key factors determining imbalance is unknown, denying patients the most appropriate interventions to prevent falls. We will directly address this issue through a comprehensive and detailed assessment of balance. Using state-of-the-art electromyography and 3D motion capture we will explore the control of balance in DM1 patients under normal, unperturbed conditions and in response to challenges to balance. Previous studies in cerebellar dysfunction and Parkinson’s disease demonstrate that our approach is a reliable and effective diagnostic tool in studying the underlying mechanisms of balance.
The project is an exploratory case-controlled study where we will compare 12 DM1 subjects and 12 age- and sex-matched healthy control subjects. Analyses of balance will be compared to epidemiological, functional, patient reported outcome and clinical data, including measures of muscle strength. The results will help health care professionals to identify the biomarkers of fall risk in DM1 and inform future interventional studies to prevent falls.
REC name
London - Surrey Research Ethics Committee
REC reference
23/PR/0544
Date of REC Opinion
1 Aug 2023
REC opinion
Further Information Favourable Opinion